A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3111



Internal ID9970377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195834634..196150324hg38UCSC Ensembl
Innerchr1:195803764..196119454hg19UCSC Ensembl
Innerchr1:194070387..194386077hg18UCSC Ensembl
Innerchr1:192535421..192851111hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38315691
hg19315691
hg18315691
hg17315691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757765
Supporting Variants
SamplesNA18969
Known Genes
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv3111
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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